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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital myasthenic syndrome 4A
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Accession:DOID:0110678 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS Ia1;   CMS1A1;   CMS4A;   Congenital Myasthenic Syndrome Type Ia1;   MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL;   Myasthenia, Familial Infantile, 1;   congenital myasthenic syndrometype Ia1
 primary_id: MESH:C565289
 alt_id: OMIM:605809;   RDO:0013968
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1
ClinVar Annotator: match by OMIM:605809
OMIM
ClinVar
PMID:3651795, PMID:7531341, PMID:7538206, PMID:7863154, PMID:8232384, PMID:8663316, PMID:8755487, PMID:8872460, PMID:8957026, PMID:9097970, PMID:9158150, PMID:9443457, PMID:9539130, PMID:9606190, PMID:9668239, PMID:9708546, PMID:10211467, PMID:10382905, PMID:10496269, PMID:10514102, PMID:10534268, PMID:11030414, PMID:11960891, PMID:12141316, PMID:12417530, PMID:12536367, PMID:14592868, PMID:15322984, PMID:15367858, PMID:15951177, PMID:16087917, PMID:16198106, PMID:17878953, PMID:18414213, PMID:19064877, PMID:19153382, PMID:19289485, PMID:19544078, PMID:20562457, PMID:21175599, PMID:21520333, PMID:21822932, PMID:21940170, PMID:22382357, PMID:22678886, PMID:22865819, PMID:24033266, PMID:24295813, PMID:25326635, PMID:25741868, PMID:26467025, PMID:27634344, PMID:27779167, PMID:28024842, PMID:28464723, PMID:28492532, PMID:29054425, PMID:29383513, PMID:30124556 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Myasthenia, familial infantile, 1
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1
ClinVar PMID:3651795, PMID:7531341, PMID:7538206, PMID:7863154, PMID:8232384, PMID:8755487, PMID:8872460, PMID:9158150, PMID:9708546, PMID:12141316, PMID:12417530, PMID:12536367, PMID:14592868, PMID:16198106, PMID:17878953, PMID:18414213, PMID:19153382, PMID:19289485, PMID:19544078, PMID:20562457, PMID:21520333, PMID:21822932, PMID:21940170, PMID:22382357, PMID:22678886, PMID:24033266, PMID:24295813, PMID:25741868, PMID:26467025, PMID:27779167, PMID:28464723, PMID:28492532, PMID:29054425, PMID:29383513, PMID:30124556 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,268,331...57,272,667
Ensembl chr10:57,268,375...57,272,660
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          congenital myasthenic syndrome 87
            congenital myasthenic syndrome 4A 6
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  congenital myasthenic syndrome 4A 6
paths to the root

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